Variant report

Variant	rs1217441
Chromosome Location	chr1:114472218-114472219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:511)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr1:114471754-114472427	K562	blood:	n/a	chr1:114472320-114472329
2	YY1	chr1:114471748-114472373	K562	blood:	n/a	chr1:114472195-114472209 chr1:114472259-114472270
3	RFX5	chr1:114471762-114472270	K562	blood:	n/a	n/a
4	POLR2A	chr1:114470792-114473521	GM12878	blood:	n/a	n/a
5	PAX5	chr1:114471915-114472323	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:114470836-114473396	K562	blood:	n/a	n/a
7	EP300	chr1:114471973-114472393	SK-N-SH_RA	brain:	n/a	chr1:114472289-114472305
8	RFX5	chr1:114471611-114472339	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr1:114471789-114472311	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:114472031-114472422	H1-hESC	embryonic stem cell:	n/a	n/a
11	SPI1	chr1:114472015-114472244	GM12891	blood:	n/a	n/a
12	CREB1	chr1:114471417-114472791	K562	blood:	n/a	n/a
13	TAF1	chr1:114471997-114472391	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr1:114471457-114472447	U87	brain:	n/a	n/a
15	NR2C2	chr1:114472035-114472401	K562	blood:	n/a	n/a
16	POLR2A	chr1:114471482-114473538	H1-neurons	neurons:	n/a	n/a
17	CTCF	chr1:114471673-114472861	K562	blood:	n/a	chr1:114472298-114472311 chr1:114472663-114472676
18	POLR2A	chr1:114471073-114473562	GM12878	blood:	n/a	n/a
19	MXI1	chr1:114470648-114473883	SK-N-SH	brain:	n/a	n/a
20	ATF2	chr1:114471304-114472317	GM12878	blood:	n/a	n/a
21	PBX3	chr1:114472028-114472300	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:114471538-114473494	K562	blood:	n/a	n/a
23	POLR2A	chr1:114471293-114473102	GM18526	blood:	n/a	n/a
24	ELF1	chr1:114471516-114473429	K562	blood:	n/a	chr1:114472196-114472208 chr1:114472308-114472320
25	MAX	chr1:114471557-114472450	A549	lung:	n/a	n/a
26	CHD2	chr1:114471824-114472341	H1-hESC	embryonic stem cell:	n/a	chr1:114472166-114472176
27	SIN3AK20	chr1:114471949-114472313	HepG2	liver:	n/a	n/a
28	MAX	chr1:114471818-114472524	H1-hESC	embryonic stem cell:	n/a	n/a
29	TAF1	chr1:114471703-114472415	HepG2	liver:	n/a	n/a
30	MAFK	chr1:114470700-114472281	K562	blood:	n/a	n/a
31	TAF1	chr1:114471853-114472292	GM12891	blood:	n/a	n/a
32	CHD1	chr1:114471119-114472254	GM12878	blood:	n/a	chr1:114472166-114472176
33	ZNF143	chr1:114471389-114472959	GM12878	blood:	n/a	chr1:114472703-114472713
34	MAX	chr1:114471584-114472530	ECC-1	luminal epithelium:	n/a	n/a
35	SIN3AK20	chr1:114471813-114472832	PANC-1	pancreas:	n/a	n/a
36	SRF	chr1:114471960-114472339	H1-hESC	embryonic stem cell:	n/a	chr1:114472196-114472206
37	GTF2F1	chr1:114471537-114472322	K562	blood:	n/a	n/a
38	BHLHE40	chr1:114471510-114472328	HepG2	liver:	n/a	chr1:114472288-114472304 chr1:114472299-114472315
39	SIN3A	chr1:114471570-114473630	H1-hESC	embryonic stem cell:	n/a	chr1:114472939-114472947 chr1:114472289-114472302
40	ETS1	chr1:114471896-114472323	A549	lung:	n/a	n/a
41	CREB1	chr1:114471692-114472440	H1-hESC	embryonic stem cell:	n/a	n/a
42	MXI1	chr1:114471415-114473383	HepG2	liver:	n/a	n/a
43	TEAD4	chr1:114471328-114472330	K562	blood:	n/a	n/a
44	MAFK	chr1:114471494-114472302	Hela-S3	cervix:	n/a	n/a
45	ELK4	chr1:114471790-114472268	HEK293	kidney:	n/a	chr1:114472140-114472151
46	CTCF	chr1:114472161-114472282	Pancreas_OC	pancreas:	n/a	n/a
47	MAZ	chr1:114471330-114474073	IMR90	lung:	n/a	chr1:114472800-114472810 chr1:114473592-114473601
48	IRF1	chr1:114471602-114472383	K562	blood:	n/a	chr1:114472191-114472205
49	POLR2A	chr1:114471599-114472420	GM12878	blood:	n/a	n/a
50	TBL1XR1	chr1:114471686-114472327	K562	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114471153..114473640-chr17:59476771..59478545,2	MCF-7	breast:
2	chr1:114447396..114448619-chr1:114471602..114472886,11	MCF-7	breast:
3	chr1:108289707..108293879-chr1:114470865..114473423,4	MCF-7	breast:
4	chr1:114447581..114448246-chr1:114471806..114472560,3	HCT-116	colon:
5	chr1:114447452..114448400-chr1:114471566..114472757,4	Hela-S3	cervix:
6	chr1:114472004..114474163-chr17:56707756..56710387,2	MCF-7	breast:
7	chr1:114471318..114473682-chr17:59475992..59478676,2	MCF-7	breast:
8	chr1:114353086..114356383-chr1:114467552..114475359,15	MCF-7	breast:
9	chr1:114299235..114302663-chr1:114470274..114473459,3	K562	blood:
10	chr1:114300069..114302951-chr1:114469985..114474355,4	MCF-7	breast:
11	chr1:114447415..114448376-chr1:114471694..114473083,5	MCF-7	breast:
12	chr1:114351760..114356326-chr1:114471041..114474785,9	K562	blood:
13	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
14	chr1:114301163..114303418-chr1:114471834..114473459,2	K562	blood:
15	chr1:114469554..114476691-chr1:114493097..114498363,7	MCF-7	breast:
16	chr1:114447790..114448383-chr1:114471947..114472675,2	NB4	blood:
17	chr1:114447178..114448996-chr1:114471115..114472973,22	MCF-7	breast:
18	chr1:114300200..114301915-chr1:114470901..114473894,2	MCF-7	breast:
19	chr1:108741161..108744200-chr1:114469971..114473274,3	MCF-7	breast:
20	chr1:114447369..114448385-chr1:114471257..114473158,18	MCF-7	breast:
21	chr1:114352160..114355349-chr1:114470537..114474785,4	K562	blood:
22	chr1:114471689..114472657-chr5:43557087..43557874,2	Hela-S3	cervix:
23	chr1:114470673..114473075-chr16:450178..453136,2	MCF-7	breast:
24	chr1:114439933..114443921-chr1:114470851..114474658,5	K562	blood:
25	chr1:114352067..114356642-chr1:114470131..114477025,16	MCF-7	breast:
26	chr1:114471506..114473104-chr1:114522240..114523784,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235527	TF binding region
HIPK1	TF binding region
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000260879	Chromatin interaction
ENSG00000085491	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000134215	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000242612	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000116793	Chromatin interaction
ENSG00000116774	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000121068	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1000528	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2147079	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2476598	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811018	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4381184	0.88[EUR][1000 genomes]
rs6658209	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7545038	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7551215	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7554371	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv3349186	chr1:114471379-114473627	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1217441	OLFML3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114470800-114473400	Active TSS	Fetal Intestine Large	intestine
2	chr1:114470800-114473400	Active TSS	Fetal Intestine Small	intestine
3	chr1:114470800-114474000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:114470800-114474200	Active TSS	Aorta	Aorta
5	chr1:114470800-114476200	Active TSS	Thymus	Thymus
6	chr1:114471000-114472600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:114471000-114473000	Active TSS	Placenta	Placenta
8	chr1:114471000-114473000	Active TSS	Right Ventricle	heart
9	chr1:114471000-114473200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:114471000-114473200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:114471000-114473400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:114471000-114473400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:114471000-114473400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr1:114471000-114473400	Active TSS	Stomach Mucosa	stomach
15	chr1:114471000-114473400	Bivalent/Poised TSS	HepG2	liver
16	chr1:114471000-114473600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:114471000-114473600	Active TSS	Ovary	ovary
18	chr1:114471000-114473600	Active TSS	HSMM	muscle
19	chr1:114471000-114473800	Active TSS	Colonic Mucosa	Colon
20	chr1:114471000-114473800	Active TSS	NHDF-Ad	bronchial
21	chr1:114471000-114474000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:114471000-114474200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:114471000-114474200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:114471000-114474800	Active TSS	GM12878-XiMat	blood
25	chr1:114471200-114473200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:114471200-114473200	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr1:114471200-114473400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:114471200-114473400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:114471200-114473400	Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:114471200-114473600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:114471200-114473600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:114471200-114473600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr1:114471200-114473600	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:114471200-114473600	Active TSS	Lung	lung
35	chr1:114471200-114473600	Active TSS	Pancreas	Pancrea
36	chr1:114471200-114473800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr1:114471200-114474000	Active TSS	K562	blood
38	chr1:114471200-114474200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr1:114471200-114474400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:114471200-114474800	Active TSS	Psoas Muscle	Psoas
41	chr1:114471400-114472800	Active TSS	Fetal Brain Female	brain
42	chr1:114471400-114473000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:114471400-114473000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:114471400-114473000	Active TSS	Brain Angular Gyrus	brain
45	chr1:114471400-114473000	Active TSS	Brain Hippocampus Middle	brain
46	chr1:114471400-114473200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:114471400-114473200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:114471400-114473200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:114471400-114473200	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr1:114471400-114473200	Active TSS	Brain Cingulate Gyrus	brain

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